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Article

Co-occurrence of 22q11 deletion syndrome and HDR syndrome.

American journal of medical genetics. Part A - 1 Oct 2013

Fukai Ryoko, Ochi Nobuhiko, Murakami Akira, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Matsumoto Naomichi, Miyake Noriko

Abstract excerpt

22q11 deletion syndrome is one of the most common chromosomal deletion syndromes and is usually caused by a 1.5-3.0 Mb deletion at chromosome 22q11.2. It is characterized by hypocalcemia resulting from hypoplasia of the parathyroid glands, hypoplasia of the thymus, and defects of the cardiac outflow tract. We encountered a Japanese boy presenting with an unusually severe phenotype of 22q11 deletion syndrome,...

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Source

Identifiers

PMID: 23918631
DOI: 10.1002/ajmg.a.36083

Genes

GATA3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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